| 表皮分解性水皰症。導致遺傳性表皮分解性水皰症的病因主要是負責維繫皮膚表皮與真皮附著的成分基因產生突變遺傳所造成，依照水皰破裂位置可區分為這單純型、接合型及營養失養型三種。通常患者的主要症狀有：1. 全身各部位皮膚都有叮能起水皰、血皰，較為嚴重連口腔、食道、腸胃等黏膜部位都會出現。2. 手指和腳指黏連成塊，指甲脫落。3. 長期會有貧血、營養不良、肢體萎縮、關節痙孿甚至形成皮膚癌，必須進行截肢。 鱗狀皮膚癌主要產生在體染色體隱性失養性表皮分解性水皰症, 尤其是Hallopeau-Siemens亞型, 最初是在青春期產生，在交界型表皮分解性水皰症較少見，一項美國數千人追蹤中，發生率分別是7.5% (20歲)、67.8% (35歲), 80.2% (45歲), 90.1% (55歲). 而在Herlitz 型交界型表皮分解性水皰症, 於25歲時為18.2% . 但只有鱗狀皮膚癌只在體染色體隱性失養性表皮分解性水皰症會致死，累積死亡率分別為38.7% (35歲), 70.0%(45歲), 78.7% (55歲)。另外惡性黑色素腫瘤也會在體染色體隱性失養性表皮分解性水皰症患者增加，到12歲時累積風險為2.5%，不過基底細胞癌則幾乎只在嚴重單純性表皮分解性水皰症患者產生 (Dowling-Meara) ，到55歲時累積風險為43.6%。最近研究發現GENTAMICIN外用或局部注射，可以抑制失養性表皮分解性水皰症的第七型膠原蛋白製造，可用於治療。 表皮分解性水皰症包括以下類別(J Am Acad Dermatol. 2008 Jun;58(6):931-50) Epidermolysis bullosa simplex - Generalized epidermolysis bullosa simplex (Koebner variant of generalized epidermolysis bullosa simplex): KRT5, KRT14
- Localized epidermolysis bullosa simplex (Weber-Cockayne variant of generalized epidermolysis bullosa simplex)): KRT5, KRT14
- Epidermolysis bullosa herpetiformis (Dowling-Meara epidermolysis bullosa simplex)
- Epidermolysis bullosa simplex, autosomal recessive ：KRT14
- Epidermolysis bullosa simplex eith migratory erythema：KRT5
- Epidermolysis bullosa simplex of Ogna：plectin
- Epidermolysis bullosa simplex with muscular dystrophy：plectin
- Epidermolysis bullosa simplex with pyloric stenosis：plectin
- Epidermolysis bullosa simplex with mottled pigmentation: KRT5
- Epidermolysis bullosa herpetifirmis (Dowling-Meara type)：KRT5, KRT14
Junctional epidermolysis bullosa Junctional epidermolysis bullosa gravis (Epidermolysis bullosa lethalis, Herlitz disease, Herlitz epidermolysis bullosa, Lethal junctional epidermolysis bullosa): LAMA3, LAMB3, LAMC2 - Mitis junctional epidermolysis bullosa: LAMA3, LAMB3, LAMC2, COL17A1, ITGB4
- Generalized atrophic benign epidermolysis bullosa
- Cicatricial junctional epidermolysis bullosa
- Junctional epidermolysis bullosa with pyloric atresia: ITGB4, ITGA6
Dystrophic epidermolysis bullosa - Dominant dystrophic epidermolysis bullosa (Cockayne-Touraine disease):COL7A1
- Recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens variant of epidermolysis bullosa):COL7A1, MMP1
- Epidermolysis bullosa dystrophica, pretibial:COL7A1
- Epidermolysis bullosa pruriginosa:COL7A1
- Epidermolysis bullosa with congenital localized absence of skin and deformity of nails:COL7A1
- transient bullous dermolysis of the newborn:COL7A1
epidermolysis bullosa, lethal acantholytic: DSP 嚴重度可以由Birmingham Epidermolysis Bullosa Severity score來判定  癢疹性表皮分解性水疱症 121  5335 |
表皮分解性水疱症epidermolysis bullosa congenita(1P)
作者：蔡呈芳
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